Interallelic Complementation in Hybrid Cells Derived from Human Diploid Strains Deficient in Galactose-1-Phosphate Uridyl Transferase Activity
نویسندگان
چکیده
منابع مشابه
Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.
Galactose-1-phosphate uridyl transferase activity has been demonstrated in hybrid cells formed from the fusion of human diploid fibroblasts obtained from different patients with galactosemia. The enzyme produced by the hybrid cells was similar to the normal enzyme in regard to K(m), pH optimum, and electrophoretic mobility on starch gel, but differed in specific activity, V(max) and thermal sta...
متن کاملThe Assay of Galactokinase and Galactose-1-phosphate Uridyl Transferase Activity in Human Erythrocytes
A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test un...
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\ ‘7ith the technical assistance of Jean Downes T FIE OCCURRENCE OF chromosomal abnormalities in humans provides a method for investigating the function of specific chromosomes. In trisomy-21 many studies have l)een carried out in an attempt to evaluate the functions of this autosome.l h Another abnormality of the 21 group is found in patients with chronic myelogenous leukemia. In these cases, ...
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Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative...
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Gdactose l-phosphate uridyl transferase found in galactoseadapted yeast by Kalckar et al. (l), catalyzes the following reaction: UDP-glucose + galactose*-1-P ti UDP-galactose + glucose-1-P. A method for partial purification of galactose l-phosphate uridyl transferase from calf liver and application of this enzyme to the determination of galactose l-phosphate have been described (2). In the latt...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1970
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.67.2.976